TRPC1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 2460777	NM_001251845.2(TRPC1):c.20C>G (p.Pro7Arg)	TRPC1 (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183218	NM_001251845.2(TRPC1):c.50C>T (p.Ser17Phe)	TRPC1 (S17F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254223	NM_001251845.2(TRPC1):c.64T>C (p.Ser22Pro)	TRPC1 (S22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610730	NM_001251845.2(TRPC1):c.87C>A (p.Asn29Lys)	TRPC1 (N29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273488	NM_001251845.2(TRPC1):c.106G>A (p.Asp36Asn)	TRPC1 (D36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183211	NM_001251845.2(TRPC1):c.119T>G (p.Val40Gly)	TRPC1 (V40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183216	NM_001251845.2(TRPC1):c.254G>A (p.Arg85Lys)	TRPC1 (R35K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183217	NM_001251845.2(TRPC1):c.256A>C (p.Asn86His)	TRPC1 (N36H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306769	NM_001251845.2(TRPC1):c.494T>C (p.Leu165Ser)	TRPC1 (L165S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383346	NM_001251845.2(TRPC1):c.505C>T (p.Arg169Cys)	TRPC1 (R169C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329164	NM_001251845.2(TRPC1):c.629C>T (p.Ser210Phe)	TRPC1 (S176F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329165	NM_001251845.2(TRPC1):c.646A>G (p.Ile216Val)	TRPC1 (I132V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271725	NM_001251845.2(TRPC1):c.671C>T (p.Ala224Val)	TRPC1 (A140V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319330	NM_001251845.2(TRPC1):c.743G>C (p.Ser248Thr)	TRPC1 (S214T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146560	GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	CHST2, DIPK2A +49 more	Copy number loss	See cases	GUncertain significance
Select item 3183219	NM_001251845.2(TRPC1):c.869C>G (p.Ser290Cys)	TRPC1 (S192C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329162	NM_001251845.2(TRPC1):c.877G>A (p.Glu293Lys)	TRPC1 (E195K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329163	NM_001251845.2(TRPC1):c.941T>G (p.Ile314Ser)	TRPC1 (I236S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161610	NM_001251845.2(TRPC1):c.970C>T (p.Gln324Ter)	TRPC1 (Q290* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 2280650	NM_001251845.2(TRPC1):c.1150T>C (p.Phe384Leu)	TRPC1 (F208L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236562	NM_001251845.2(TRPC1):c.1268T>C (p.Ile423Thr)	TRPC1 (I345T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183210	NM_001251845.2(TRPC1):c.1276C>T (p.Leu426Phe)	TRPC1 (L250F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305373	NM_001251845.2(TRPC1):c.1363C>T (p.Arg455Cys)	TRPC1 (R279C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346454	NM_001251845.2(TRPC1):c.1442A>G (p.His481Arg)	TRPC1 (H349R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471478	NM_001251845.2(TRPC1):c.1535G>A (p.Arg512His)	TRPC1 (R428H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596615	NM_001251845.2(TRPC1):c.1763T>C (p.Ile588Thr)	TRPC1 (I103T +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550558	NM_001251845.2(TRPC1):c.1867G>A (p.Ala623Thr)	TRPC1 (A107T +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536565	NM_001251845.2(TRPC1):c.1889A>G (p.Asn630Ser)	TRPC1 (N114S +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183212	NM_001251845.2(TRPC1):c.2325A>G (p.Ile775Met)	TRPC1 (I259M +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183213	NM_001251845.2(TRPC1):c.2345G>A (p.Arg782Gln)	TRPC1 (R443Q +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183215	NM_001251845.2(TRPC1):c.2360C>A (p.Ala787Asp)	TRPC1 (A448D +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 503573	GRCh37/hg19 3q23(chr3:142272098-142691972)x3	ATR, PAQR9 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 48